NEWBORN METABOLIC SCREENING PROGRAM
Last Posted: Nov-10-2016 11AM
Last Updated: Nov 09, 2016
- Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter Anne P J et al. European journal of pediatrics 2015 Sep 174(9) 1183-8
- Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
S Grosse, Blog post, March 15, 2016
- Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
Cavazzana Marina et al. Human gene therapy 2016 Feb (2) 108-16
- Newborn screening for severe combined immune deficiency (technical and political aspects).
Kobrynski Lisa et al. Current opinion in allergy and clinical immunology 2015 Dec (6) 539-46
- Newborn Metabolic Screening Program
Disease: NA; Type: Program; State: South Dakota
- A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
Nourizadeh Maryam, et al. Iranian journal of allergy, asthma, and immunology 2015 8 (4) 457-61
- Severe combined immunodeficiencies and related disorders
A Fischer et al. Nature Reviews Disease Primers, November 2015
- Severe Combined Immunodeficiency Disorders.
Chinn Ivan K et al. Immunology and allergy clinics of North America 2015 Nov (4) 671-94
- Severe combined immunodeficiency-an update.
Cirillo Emilia et al. Annals of the New York Academy of Sciences 2015 Jul
- [New recommendations for the Dutch neonatal screening programmeA report from the Health Council of the Netherlands].
Published on 2015 by Health Council of the Netherlands
- Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer D K et al. Clin. Exp. Immunol. 2014 Dec 178(3) 459-69
- Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Adams Stuart P, et al. Clinical immunology (Orlando, Fla.) 2015 8 (2) 174-179
- Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Okada Satoshi, Markle Janet G, Deenick Elissa K, Mele Federico, Averbuch Dina, Lagos Macarena, Alzahrani Mohammed, Al-Muhsen Saleh, Halwani Rabih, Ma Cindy S, Wong Natalie, Soudais Claire, Henderson Lauren A, Marzouqa Hiyam, Shamma Jamal, Gonzalez Marcela, Martinez-Barricarte Rubén, Okada Chizuru, Avery Danielle T, Latorre Daniela, Deswarte Caroline, Jabot-Hanin Fabienne, Torrado Egidio, Fountain Jeffrey, Belkadi Aziz, Itan Yuval, Boisson Bertrand, Migaud Mélanie, Arlehamn Cecilia S Lindestam, Sette Alessandro, Breton Sylvain, McCluskey James, Rossjohn Jamie, de Villartay Jean-Pierre, Moshous Despina, Hambleton Sophie, Latour Sylvain, Arkwright Peter D, Picard Capucine, Lantz Olivier, Engelhard Dan, Kobayashi Masao, Abel Laurent, Cooper Andrea M, Notarangelo Luigi D, Boisson-Dupuis Stéphanie, Puel Anne, Sallusto Federica, Bustamante Jacinta, Tangye Stuart G, Casanova Jean-Laurent.Science 2015 Jul 9.
- Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
Wilson Michael R et al. N. Engl. J. Med. 2014 Jun 19. 370(25) 2408-17
- Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
Taylor Jennifer L et al. Clin. Chem. 2015 Feb 61(2) 412-9
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